Search Results - "Steinke, V"

Coexisting somatic promoter hypermethylation and pathogenic MLH1 germline mutation in Lynch syndrome by Rahner, N, Friedrichs, N, Steinke, V, Aretz, S, Friedl, W, Buettner, R, Mangold, E, Propping, P, Walldorf, C

“…Somatic epimutations in the MLH1 promoter mimic the phenotype of Lynch syndrome. To date, no somatic hypermethylation of the MLH1 promoter in the carrier of a…”
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Pertussis in the Voronezh Region: Epidemiology and Vaccination by Mamchik, N. P., Gabbasova, N. V., Sitnik, T. N., Steinke, L. V.

“…Relevance . In recent years, the increase in the incidence of pertussis has been observed in many countries despite high vaccination coverage of the child…”
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Orbital decompression : Indications, technique, results by Welkoborsky, H-J, Graß, S K, Küstermeyer, J, Steinke, K V

“…Orbital decompression is an effective surgical procedure to reduce intraorbital pressure. Causes may diseases leading to rapid pressure increases, e. g.,…”
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The genomic organization of the murine Mlc1 (Wkl1, KIAA0027) gene by STEINKE, V, MEYER, J, SYAGAILO, Y. V, ORTEGA, G, HAMEISTER, H, MÖSSNERL, R, SCHMITT, A, LESCH, K.-P

“…The human MLC1( WKL1, KIAA0027) gene encodes a putative transmembrane protein expressed exclusively in brain. Recessive mutations within this gene cause…”
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A48 PARENT-REPORTED HEALTH RELATED QUALITY OF LIFE CARING FOR CHILDREN WITH PEDIATRIC FEEDING DISORDERS IN ALBERTA by Lang, A, Chui, A, Cohen, J, Steinke, V, Moland, M, Turner, J

“…Abstract Background Children with pediatric feeding disorders (PFD), including those requiring tube feeding, need significant care. Caregiver burden includes…”
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Seltene Tumoren als Leitsymptom hereditärer Tumorsyndrome by Perne, C., Steinke-Lange, V., Aretz, S., Spier, I.

“…Zusammenfassung Hintergrund Monogen erbliche Tumorsyndrome bzw. Tumordispositionssyndrome (TDS) beruhen auf Keimbahn-/konstitutionellen Mutationen in…”
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Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome by Morak, Monika, Koehler, Udo, Schackert, Hans Konrad, Steinke, Verena, Royer-Pokora, Brigitte, Schulmann, Karsten, Kloor, Matthias, Höchter, Wilhelm, Weingart, Josef, Keiling, Cortina, Massdorf, Trisari, Holinski-Feder, Elke

“…A positive family history, germline mutations in DNA mismatch repair genes, tumours with high microsatellite instability, and loss of mismatch repair protein…”
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Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis by Hinrichsen, Inga, Schäfer, Dieter, Langer, Deborah, Köger, Nicole, Wittmann, Margarethe, Aretz, Stefan, Steinke, Verena, Holzapfel, Stefanie, Trojan, Jörg, König, Rainer, Zeuzem, Stefan, Brieger, Angela, Plotz, Guido

“…Lynch syndrome is caused by inactivating mutations in the MLH1 gene, but genetic variants of unclear significance frequently preclude diagnosis. Functional…”
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Genome-wide analysis associates familial colorectal cancer with increases in copy number variations and a rare structural variation at 12p12.3 by Yang, Rongxi, Chen, Bowang, Pfütze, Katrin, Buch, Stephan, Steinke, Verena, Holinski-Feder, Elke, Stöcker, Sarah, von Schönfels, Witigo, Becker, Thomas, Schackert, Hans K, Royer-Pokora, Brigitte, Kloor, Matthias, Schmiegel, Wolff H, Büttner, Reinhard, Engel, Christoph, Lascorz Puertolas, Jesus, Försti, Asta, Kunkel, Nelli, Bugert, Peter, Schreiber, Stefan, Krawczak, Michael, Schafmayer, Clemens, Propping, Peter, Hampe, Jochen, Hemminki, Kari, Burwinkel, Barbara

“…Colorectal cancer (CRC) is one of the most common cancer worldwide. However, a large number of genetic risk factors involved in CRC have not been understood…”
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GENOTYPE-PHENOTYPE ASSOCIATIONS PROVIDE A RATIONAL TO IDENTIFY POTENTIALLY ACTIONABLE VUS by Pelaez, J, Monteiro, R, Lobo, S, Sousa, L, Pinheiro, H, Castedo, S, Garrido, L, Teixeira, M, Michils, G, Bours, V, de Putter, R, Golmard, L, Blanluet, M, Colas, C, Benusiglio, P, Desseignes, C, Florence, C, Aretz, S, Spier, I, Huneburg, R, Gieldon, L, Schrock, E, Holinski-Feder, E, Steinke, V, Calistri, D, Tedaldi, G, Ranzani, G, Genuardi, M, Silveira, C, Silva, I, Krajc, M, Blatnik, A, Novacovik, S, Patino-Garcia, A, Soto, JL, Lazaro, C, Capella, G, Brunet-Vidal, J, Balmana, J, Dominguez-Garrido, E, Ligtenberg, M, Fewings, E, Fitzgerald, R, Woodward, E, Evans, G, Hanson, H, Lagerstedt-Robinson, K, Bajalica-Lagercrantz, S, Egas, C, Tejada, MI, Dahan, K, Feret, D, Hoogerbrugge, N, Tischkowitz, M, Oliveira, C

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The first genotype-phenotype study on European carriers of CDH1 germline mutations by Garcia-Pelaez, J, Monteiro, R, Sousa, L, Pinheiro, H, Castedo, S, Garrido, L, Teixeira, M, Michils, G, Bours, V, de Putter, R, Golmard, L, Blanluet, M, Colas, C, Benusiglio, P, Aretz, S, Spier, I, Huneburg, R, Gieldon, L, Schrock, E, Holinski-Feder, E, Steinke, V, Calistri, D, Tedaldi, G, Ranzani, G, Genuardi, M, Silveira, C, Silva, I, Krajc, M, Blatnik, A, Novakovic, S, Patino-Garcia, A, Soto, J, Lazaro, C, Capella, G, Brunet-Vidal, J, Balmana, J, Dominguez-Garrido, E, Ligtenberg, M, Fewings, E, Fitzgerald, R, Woodward, E, Evans, G, Hanson, H, Lagerstedt-Robinson, K, Bajalica-Lagercrantz, S, Egas, C, Martinez-Bouzas, C, Dahan, K, Feret, D, Hoogerbrugge, N, Tischkowitz, M, Oliveira, C

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European Landscape of CDH1 germline mutations: a new tool to understand hereditary diffuse gastric cancer (HDGC) by Pelaez, JG, Monteiro, A, Sousa, L, Castedo, S, Garrido, L, Michils, G, Bours, V, de Putter, R, Golmard, L, Blanluet, M, Colas, C, Benusiglio, P, Aretz, S, Spier, I, Huneburg, R, Gieldon, L, Schrock, E, Holinski-Feder, E, Steinke, V, Calistri, D, Tedaldi, G, Nadia-Ranzani, G, Genuardi, M, Silveira, C, Krajc, M, Blatnik, A, Novakovic, S, Patino-Garcia, A, Soto, J, Lazaro, C, Capella, G, Brunet-Vidal, J, Balmana, J, Dominguez-Garrido, E, Ligtenberg, M, Fewings, E, Fitzgerald, R, Woodward, E, Evans, G, Hanson, H, Lagerstedt-Robinson, K, Bajalica-Lagercrantz, S, Teixeira, M, Hoogerbrugge, N, Tischkowitz, M, Oliveira, C

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Klinik und Genetik des familiären Darmkrebses by Steinke, V., Vogt, S., Aretz, S.

“…Eine familiäre Häufung von Dickdarmkrebs (CRC) und ein früher Erkrankungsbeginn sind Hinweise auf erbliche Tumorsyndrome, die für etwa 3–5% aller CRC…”
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Coexisting somatic promoter hypermethylation and pathogenic MLHI germline mutation in Lynch syndrome by RAHNER, N, FRIEDRICHS, N, STEINKE, V, ARETZ, S, FRIEDL, W, BUETTNER, R, MANGOLD, E, PROPPING, P, WALLDORF, C

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A systems review approach to evaluation in a CMHC by Steinke, G V

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An opportunity lost? Comments on the Dittmar-Franklin reports on nursing home placements by Blackman, S, Steinke, G V

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Klinik und Genetik des familiären Darmkrebses by Steinke, V., Vogt, S., Aretz, S.

“…Zusammenfassung Eine familiäre Häufung von Dickdarmkrebs (CRC) und ein früher Erkrankungsbeginn sind Hinweise auf erbliche Tumorsyndrome, die für etwa 3–5%…”
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Pertussis in the Voronezh Region: Epidemiology and Vaccination by Mamchik, N. P., Gabbasova, N. V., Sitnik, T. N., Steinke, L. V.

“…Relevance . In recent years, the increase in the incidence of pertussis has been observed in many countries despite high vaccination coverage of the child…”
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Lifestyle factors and breast cancer risk in females with PTEN Hamartoma Tumor Syndrome by Hendricks, L, Verbeek, K, Schuurs-Hoeijmakers, J, Mensenkamp, A, Brems, H, de Putter, R, Anastasiadou, V, Colas, C, Jahn, A, Steinke-Lange, V, Renieri, A, Irmejs, A, Olderode-Berends, M, Links, T, Leter, E, Bosch, D, Vetti, HH, Haavind, MT, Jorgensen, K, Maehle, L, Blatnik, A, Lleuger-Pujol, R, Brunet, J, Tham, E, Hoogerbrugge, N, Vos, J

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Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS) by Hendricks, Linda A J, Verbeek, Katja C J, Schuurs-Hoeijmakers, Janneke H M, Mensenkamp, Arjen R, Brems, Hilde, de Putter, Robin, Anastasiadou, Violetta C, Villy, Marie-Charlotte, Jahn, Arne, Steinke-Lange, Verena, Baldassarri, Margherita, Irmejs, Arvids, de Jong, Mirjam M, Links, Thera P, Leter, Edward M, Bosch, Daniëlle G M, Høberg-Vetti, Hildegunn, Tveit Haavind, Marianne, Jørgensen, Kjersti, Mæhle, Lovise, Blatnik, Ana, Brunet, Joan, Darder, Esther, Tham, Emma, Hoogerbrugge, Nicoline, Vos, Janet R

“…Females with PTEN Hamartoma Tumor Syndrome (PHTS) have breast cancer risks up to 76%. This study assessed associations between breast cancer and lifestyle in…”
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